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Letters |17 July 2018

Genomic Analysis to Avoid Misdiagnosis of Adults With Bilateral Renal Cysts

Ashima Gulati, MD; Kyongtae T. Bae, MD, PhD, MBA; Stefan Somlo, MD; Terry Watnick, MD

Article, Author, and Disclosure Information
Author, Article, and Disclosure Information
This article was published at Annals.org on 27 March 2018.
  • Yale University School of Medicine, New Haven, Connecticut (A.G., S.S.)
    University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania (K.T.B.)
    University of Maryland School of Medicine, Baltimore, Maryland (T.W.)

    Acknowledgment: The authors thank the patients for their participation in the study.

    Financial Support: From the Yale Center for Mendelian Genomics (National Institutes of Health grant U54 HG006504). This work was supported by the American Society of Nephrology Ben J Lipps fellowship (2015 to 2017), the Polycystic Kidney Disease Foundation fellowship (2017 to 2019) (Dr. Gulati), and National Institutes of Health grants for the George M. O’Brien Kidney Center at Yale (P30 DK079310 and DK100592) (Dr. Somlo) and the Baltimore PKD Center (P30 DK090868 and DK095036) (Dr. Watnick).

    Disclosures: Disclosures can be viewed at www.acponline.org/authors/icmje/ConflictOfInterestForms.do?msNum=L17-0644.

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Background: The most common clinical diagnosis in adults with bilateral renal cysts, hypertension, and chronic kidney disease is autosomal-dominant polycystic kidney disease (ADPKD), which is caused by a mutation in the gene that encodes polycystin-1 (PKD1) or polycystin-2 (PKD2) (1). Establishing this diagnosis may be difficult when the severity of renal disease or presentation of extrarenal disease varies, especially when there is no family history. Other conditions can present with bilateral renal cysts in adults, such as hereditary angiopathy, nephropathy, aneurysms, and muscle cramps (HANAC) syndrome. This syndrome is caused by a mutation in the gene that encodes the α1 isoform of type IV collagen (COL4A1) (2, 3).
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Gulati A, Bae KT, Somlo S, Watnick T. Genomic Analysis to Avoid Misdiagnosis of Adults With Bilateral Renal Cysts. Ann Intern Med. ;169:130–131. doi: 10.7326/L17-0644

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Published: Ann Intern Med. 2018;169(2):130-131.

DOI: 10.7326/L17-0644

Published at www.annals.org on 27 March 2018

©
2018 American College of Physicians
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